|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
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|
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2538 / 7739
|
|
2
|
(HPO:0000154)
|
Wide mouth |
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137 / 7739
|
|
3
|
(HPO:0000160)
|
Narrow mouth |
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|
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188 / 7739
|
|
4
|
(HPO:0000193)
|
Bifid uvula |
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|
|
66 / 7739
|
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5
|
(HPO:0000316)
|
Hypertelorism |
|
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|
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644 / 7739
|
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6
|
(HPO:0000343)
|
Long philtrum |
|
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|
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262 / 7739
|
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7
|
(HPO:0000369)
|
Low-set ears |
|
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|
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372 / 7739
|
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8
|
(HPO:0000445)
|
Wide nose |
|
|
|
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190 / 7739
|
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9
|
(HPO:0000457)
|
Depressed nasal ridge |
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|
|
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85 / 7739
|
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10
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
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11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
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|
|
|
328 / 7739
|
|
12
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
13
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
14
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
15
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
16
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
17
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0001511)
|
Intrauterine growth retardation |
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|
|
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358 / 7739
|
|
20
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
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107 / 7739
|
|
21
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
22
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
23
|
(HPO:0001636)
|
Tetralogy of Fallot |
rare [HPO:skoehler]
|
|
|
|
104 / 7739
|
|
24
|
(HPO:0001642)
|
Pulmonic stenosis |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
25
|
(HPO:0001659)
|
Aortic regurgitation |
rare [HPO:skoehler]
|
|
|
|
36 / 7739
|
|
26
|
(HPO:0001732)
|
Abnormality of the pancreas |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0001894)
|
Thrombocytosis |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
28
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
29
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
30
|
(HPO:0002041)
|
Intractable diarrhea |
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|
|
|
4 / 7739
|
|
31
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
|
32
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
|
33
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
34
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
35
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
36
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
|
|
46 / 7739
|
|
37
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
38
|
(HPO:0003235)
|
Hypermethioninemia |
|
|
|
|
8 / 7739
|
|
39
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
40
|
(HPO:0004734)
|
Renal cortical microcysts |
|
|
|
|
10 / 7739
|
|
41
|
(HPO:0006267)
|
Large placenta |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
43
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
44
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
|
|
12 / 7739
|
|
45
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
|
46
|
(HPO:0011031)
|
Abnormality of iron homeostasis |
|
|
|
|
16 / 7739
|
|
47
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
48
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
49
|
(HPO:0011877)
|
Increased mean platelet volume |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
50
|
(HPO:0012023)
|
Galactosuria |
|
|
|
|
5 / 7739
|
|
51
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|